G52E (p.Gly52Glu) variant of CYP1A2 (Cytochrome P450 1A2)
G52E (p.Gly52Glu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- gnomAD 15-74749893-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.88
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available